Rs548234 polymorphism at PRDM1-ATG5 region susceptible to rheumatoid arthritis in Caucasians is not associated with rheumatoid arthritis in Chinese Han population
- Author:
- No author available
- Journal Title:
- Chinese Medical Journal
- Issue:
- 18
- DOI:
- 10.3760/cma.j.issn.0366-6999.2011.18.012
- Key Word:
- rheumatoid arthritis;PRDMI/ATG5;genetic association;Chinese Han population
Abstract： Background A previous study has shown that rs548234 polymorphism at PRDM1-ATG5 region is associated with rheumatoid arthritis (RA) in Caucasian populations. The aim of this study was to investigate the effect of rs548234 polymorphism at PRDM1-ATG5 region on susceptibility to RA in Chinese Han population.Methods We genotyped 848 RA patients and 1431 matched healthy controls for rs548234 single-nucleotide polymorphism (SNP) with a predesigned TaqMan SNP genotyping assay. Association analyses were performed on the whole data set and on rheumatoid factors (RF) and anti-cyclic citrullinated peptides (anti-CCP) antibody. Finally, we carried out combined analysis of rs548234 association with RA based on the published data.Results No significant difference in the genotype distribution between RA patients and healthy controls for rs548234 (C/T) polymorphism was found in Chinese Han population, neither in whole data set nor in stratified subsets, e.g. RF and anti-CCP status. Association analysis in different ethnic groups showed that rs548234 at PRDM1-ATG5 region was associated with RA in Caucasian ancestry but not in East Asian population.Conclusions Our results showed no involvement of rs548234 at PRDM1-ATG5 region in the susceptibility or clinical relevance of RA in Chinese Han population.
- [1]Alan S. Rigby,Alan J. Silman,Lianne Voelm,etc.Investigating the HLA component in rheumatoid arthritis: An additive (dominant) mode of inheritance is rejected, a recessive mode is preferred[J].1991,8(3).
- [2]A J, MacGregor,H, Snieder,A S, Rigby,etc.Characterizing the quantitative genetic contribution to rheumatoid arthritis using data from twins.[J].2000,43(1).
- [3]Calame K.Activation-dependent induction of Blimp-1.[J].2008,20(3).
- [4]Martins G,Calame K.Regulation and functions of Blimp-1 in T and B lymphocytes.[J].2008,26.
- [5]E D, Harris.Rheumatoid arthritis. Pathophysiology and implications for therapy.[J].1990,322(18).
- [6]C. M. Deighton,D. J. Walker,I. D. Griffiths,etc.The contribution of H LA to rheumatoid arthritis[J].1989,36(3).
- [7]Crotty S,Johnston RJ,Schoenberger SP.Effectors and memories: Bcl-6 and Blimp-1 in T and B lymphocyte differentiation.[J].2010,11(2).
- [8]Jin Y,Zhang ZH,Chen F,etc.PTPN22 allele polymorphisms in 15 Chinese populations.[J].2008,35(6).
- [9]Alex, Clarke,Timothy J, Vyse.Genetics of rheumatic disease.[J].2009,11(5).
- [10]Levine B,Deretic V.Unveiling the roles of autophagy in innate and adaptive immunity.[J].2007,7(10).
- [11]Kochi Y,Okada Y,Suzuki A,etc.A regulatory variant in CCR6 is associated with rheumatoid arthritis susceptibility.[J].2010,42(6).
- [12]Levine B,Virgin HW.Autophagy genes in immunity.[J].2009,10(5).
- [13]Ding B,van-der-Horst-Bruinsma IE,Begovich AB,etc.Common variants at CD40 and other loci confer risk of rheumatoid arthritis.[J].2008,40(10).
- [14]Kallberg H,Padyukov L,Plenge RM,etc.Gene-gene and gene-environment interactions involving HLA-DRB1, PTPN22, and smoking in two subsets of rheumatoid arthritis[J].2007,80(5).
- [15]Ulfgren AK,Nicholas AP,Skold CM,etc.Smoking increases peptidylarginine deiminase 2 enzyme expression in human lungs and increases citrullination in BAL cells.[J].2008,67(10).
- [16]Fouix S,Tran TH,Alibert O,etc.New susceptibility locus for rheumatoid arthritis suggested by a genome-wide linkage study.[J].1998,95(18).
- [17]Lee HS,Begovich AB,Gregersen PK,etc.PTPN22: setting thresholds for autoimmunity.[J].2006,18(4).
- [18]Yamamoto K,Mori M,Yamada R,etc.Ethnic differences in allele frequency of autoimmune-disease-associated SNPs.[J].2005,50(5).
- [19]Munz C.Enhancing immunity through autophagy.[J].2009,27.
- [20]Changsoo Paul, Kang,Hye-Soon, Lee,Hyoungseok, Ju,etc.A functional haplotype of the PADI4 gene associated with increased rheumatoid arthritis susceptibility in Koreans.[J].2006,54(1).
- [21]Barton A.PADI4 genotype is not associated with rheumatoid arthritis in a large UK Caucasian population.[J].2010,69(4).
- [22]Toes RE,Worthington J,Karlson EW,etc.Genome-wide association study meta-analysis identifies seven new rheumatoid arthritis risk loci.[J].2010,42(6).
- [23]Li W,Plenge RM,Liew A,etc.TRAF1-C5 as a risk locus for rheumatoid arthritis--a genomewide study.[J].2007,357(12).
- [24]Gregersen PK,Lee AT,Amos CI.REL, encoding a member of the NF-kappaB family of transcription factors, is a newly defined risk locus for rheumatoid arthritis.[J].2009,41(7).
- [25]Stastny P.Mixed lymphocyte cultures in rheumatoid arthritis.[J].1976.
- [26]Klareskog L,Padyukov L,Lorentzen J,etc.Mechanisms of disease: Genetic susceptibility and environmental triggers in the development of rheumatoid arthritis.[J].2006,2(8).